A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251815



Internal ID21699324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53015968..53015968hg38UCSC Ensembl
chr20:51632507..51632507hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722529
Supporting Variants
Samples
Known GenesTSHZ2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17251815
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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